Evolution of Health Technology Assessment for Rare Diseases and Its Impact on Access

OBJECTIVES: Drug development and Health Technology Assessment (HTA) of rare diseases is subject to special challenges for clinical and economic evidence generation. These challenges have led Health Technology Assessment (HTA) agencies to adjust their existing practices which would otherwise be challenging for treatments for rare diseases.

METHODS: HTA reports and FDA/EMA responses to regulatory submissions for rare disease treatments in UK, France, Germany, Italy, and the US between 2018 and 2023 were analysed to assess uncertainties mentioned, comparators, and processes and their impact on reimbursement status and time to reimbursement.

RESULTS: Some HTA bodies (NICE, HAS, and AIFA) allow for lifetime horizons to be used for economic models, and advise on discount rates for long-term benefits of treatments. NICE has incorporated additional elements of value (e.g., severity, rarity, equity, unmet need, and innovation); for example, a severity modifier that provides an increased weighting of quality-adjusted life years (QALYs) for severe diseases. G-BA assesses rare disease treatments via an orphan medicine pathway which has simplified evidence requirements. To expand data collection through registries, France has developed a national database for rare diseases (BNDMR), whilst Italy has established multiple monitoring registries where data on products use are routinely collected.

CONCLUSIONS: This analysis suggests that HTA bodies have developed and adjusted their pathways to meet the unique challenges treatments for rare diseases present and ensure the objective evaluation of these therapies. In the case of cell and gene therapies which are mostly developed for rare or orphan diseases these evolutions would have a significant impact.